Showing papers on "Primary systemic amyloidosis published in 2003"

Quantitative analysis of serum free light chains. A new marker for the diagnostic evaluation of primary systemic amyloidosis.

Abstract: Primary systemic amyloidosis is a plasma cell dyscrasia characterized by the accumulation of excess free immunoglobulin light chains (FLCs) as amyloid. One of the diagnostic features of amyloidosis is the presence of circulating monoclonal FLCs in the serum and urine of the patients. The FLC usually is present in small amounts, and immunofixation is required for detection. A nephelometric method for quantitating FLCs in serum has been described using antibodies that recognize only FLC not bound to heavy chain. We describe a retrospective study using this quantitative FLC method for assessing monoclonal FLCs in 95 patients with amyloidosis. The sensitivity of nephelometric serum FLC measurements is particularly useful in patients with negative immunofixation results for serum, urine, or both. In addition, the FLC assay can be used for follow-up of patients with amyloidosis who have undergone stem cell transplantation.

Poor tolerance to high doses of thalidomide in patients with primary systemic amyloidosis.

Abstract: Treatments effective against multiple myeloma may be useful in primary systemic amyloidosis (AL). Thalidomide is active in myeloma. Results of the first 12 patients enrolled on a phase II trial of thalidomide for AL are presented. Progressive edema, cognitive difficulties, and constipation occurred in approximately 75%; dyspnea, dizziness and rash in 50%. Five developed progressive renal insufficiency. Deep venous thrombosis and syncope each occurred in two. Median time on the study was 72 days, range was 25 to 333 days. All 12 have withdrawn from the study (side-effects, 6; progression, 4; and death, 2 patients). AL patients do not tolerate high dose thalidomide.

An unusual form of primary systemic amyloidosis: amyloid elastosis: report of a case treated by haematopoietic cell transplantation.

Abstract: Amyloid elastosis is a rare variant of primary systemic amyloidosis characterized by amyloid deposited around elastic fibres. Only two cases, with pseudoxanthoma elasticum-like features and fatal outcome, have been reported. A 56-year-old woman presented with polyneuropathy and a diffuse plane xanthoma-like eruption. Light and electron microscopy studies revealed deposits of amyloid L encasing either normal-looking or short, fragmented elastic fibres in the dermis in a pattern characteristic of amyloid elastosis. The patient had medullary plasmocytosis with lambda light chain restricted expression and underwent autologous stem cell transplantation, which resulted in progressive regression of mucocutaneous signs and stabilization of the polyneuropathy. Our case extends the spectrum of clinical and histopathological presentations of amyloid elastosis. Haematopoietic cell transplantation might improve outcome in patients with multisystem disease.

Gastrointestinal Amyloidosis: Approach to Treatment.

Abstract: The main treatment goals in amyloidosis are twofold: 1) to diagnose the underlying disease state accurately to guide effective primary therapy (if available) and 2) to ameliorate symptoms. The correct diagnosis is essential because disease-modifying therapies vary widely according to the underlying primary pathology. Primary treatment options remain limited. The best evidence is for high-dose chemotherapy, followed by autologous stem cell transplantation in patients with primary systemic amyloidosis. High-flux hemodialysis (HD) may prevent HD-related amyloidosis. Liver transplantation may be an option for patients with familial amyloidotic polyneuropathy. Several novel specific therapies are under investigation, including small molecule drugs and vaccines. Their efficacy and safety in humans remain to be demonstrated. In the absence of specific cures, symptom-directed therapy assumes a paramount role and can improve quality of life by mitigating diarrhea or pain, for example.

Hepatic and splenic amyloidosis: dual-phase spiral CT findings

Abstract: Although the liver and spleen are frequently involved in primary systemic amyloidosis, the clinical manifestations of hepatic and splenic involvement are usually mild and a dominant symptomatic hepatic presentation is uncommon. We report a case of a 51-year-old woman with giant hepatomegaly, hypertransaminasemia, increase in alkaline phosphatase, and ascites, in whom the findings of dual-phase spiral computed tomography suggested liver and splenic amyloidosis.

Monoclonal gammopathies and the kidney

Abstract: List of Principal Authors. Preface: Kidney disease-inducing monoclonal immunoglobulins J-L. Preud'Homme. Part I: The Culprits: The Plasma Cell Dyscrasias. 1. Physiopathology of malignant B cell lymphoproliferations K. Lassoued, D. Ghez. 2. Immunoglobulin synthesis and secretion D.O. Beenhouwer, K.R. Chintalacharuvu, S.L. Morrison. 3. Immunoglobulin decreased solubility diseases: pathologies of the V domains? M. Cogne, H.R. Galea, C. Sira, C. Decourt. 4. Megalin, cubilin and immunoglobulin light chains H. Birn, M. Leboulleux, S.K. Moestrup, P.M. Ronco, P. Aucouturier, E.L. Christensen. Part II: The Victim: The Tubule. 5. Pathophysiology of myeloma kidney P.W. Sanders. 6. Myeloma cast nephropathy: clinical presentation A. Hummel, P. Lesavre, H.-H. Noel, D. Droz, P. Aucouturier, D. Chauveau, M. Touam, J.-P. Grunfeld. 7. New therapeutic approaches of the myeloma patient with and without renal failure J.P. Fermand. 8. Adult Fanconi syndrome due to monoclonal immunoglobulin light chains: an underdiagnosed disease with unexpected clinical and pathologic heterogeneity P. Ronco, B. Mougenot, B. Moulin, M. Bouiller, T. Messiaen, P. Aucouturie. 9. Monoclonal immunoglobulin light chains associated to Fanconi syndrome P. Aucouturier, S. Deret, M. Leboulleux, P. Ronco. Part III: The Victim: The Glomerulus. 10. Ultrastructural pattern and classification of renal monoclonal immunoglobulin deposit G. Touchard. 11. Morphological aspects in light chain deposition diseas F. Ferrario, S. Curioni, G. Arrigo, C. Pozzi, G. Banfi. 12. Renal monoclonalimmunoglobulin deposition disease (MIDD): The Columbia experience J. Lin, G.S. Markowitz, A.M. Valeri, N. Kambham, W.H. Sherman, G.B. Appel, V.D. D'Agati. 13. Monoclonal cryoglobulinemia kidney G. D'Amico. 14. Fibrillary glomerulonephritis: defining the disease spectrum V.D. D'Agati, G.B. Appel, G.S. Markowitz, L. Truong, S. Seshan, D. Un Kim, G. Sacchi. 15. Glomerulonephritis with organized immunoglobulin deposits: fibrillar and microtubular deposits are associated with distinct immunological features F. Bridoux, O. Coldefy, J.-M. Goujon, M. Bauwens, A. Sechet, J.-L. Preud'Homme, G. Touchard. Part IV: Immunoglobulinic Amyloidosis. 16. Clinical features and management of amyloidosis P.N. Hawkins. 17. Fibrillogenesis and therapy of amyloidosis J.S. Wall, M. Schell, R. Hrncic, F.J. Stevens, A. Solomon. 18. Immunoglobulin light chain amyloidosis and the kidney M.A. Gertz, M.Q. Lac, A. Dispenzieri. 19. Treating primary systemic amyloidosis with stem cell transplantation: outcomes in renal amyloidosis R.L. Comenzo. 20. Prognostic factors for survival and response after high-dose therapy and autologous stem cell transplantation in systemic al amyloidosis: a report on 21 patients P. Moreau, V. Leblond, P. Bourquelot, T. Facon, A. Huynh, D. Caillot, O. Hermine, M. Attal, M. Hamidou, G. Nedellec, A. Ferrant, B. Audhuy, R. Bataille, N. Milpied, J.-L. Harousseau. 21. Presentation of the French multicentre randomized trial comparing intensive and conventional treatment for AL amyloidosis A. Jaccard. 22. Amyloidosis J.P. Fermand, A. Jaccard, O. Hermine. Oral Communications.

Thalidomide: A Step Forward in the Treatment of Malignant Monoclonal Gammopathies Commentary

Abstract: Monoclonal gammopathies are characterized by clonal proliferation of plasma cells, which results in the production of a monoclonal protein (M protein) that is present in serum and/or urine. The more common monoclonal gammopathies that have clinical consequences are multiple myeloma (MM), Waldenstrom macroglobulinemia (WM), and primary systemic amyloidosis (AL). Changes in the level of paraprotein are the basis for assessing the efficacy of therapy and monitoring the evolution of the disease. In general, the M-protein decrease is accompanied by an improvement in the clinical manifestations of the disease. Unfortunately, a constant finding in monoclonal gammopathies is resistance to chemotherapy, reflected by a low complete remission (CR) rate with conventional treatment.

Primary systemic amyloidosis presenting with advanced heart failure.

Abstract: Primary systemic amyloidosis (AL) is a rare, sporadic disease caused by deposition of immunoglobulin light chains in various tissues; symptoms vary based on which organs are infiltrated by the amyloid fibrils. Cardiac involvement occurs in up to 50% of patients with primary amyloidosis and is associated with a very poor prognosis. We report a case of a 57-year-old black man who presented with symptoms consistent with congestive heart failure. He was later found to have primary systemic amyloidosis, confirmed by abdominal fat pad biopsy.

A clinical analysis of 71 cases of amyloidosis

Abstract: OBJECTIVE: To comprehend the clinical characteristics and treatment of amyloidosis. METHODS: The clinical data of 71 patients with amyloidosis, admitted to Peking Union Medical College Hospital from February 1982 to February 2002, were analyzed. RESULTS: 57 of the 71 cases were systemic amyloidosis. Among the 57 cases, 33 were primary systemic amyloidosis, 22 secondary systemic amyloidosis and 2 familial amyloid polyneuropathy.The remaining 14 cases were localized amyloidosis.82% of the patients with systemic amyloidosis showed abnormalities in Doppler echocardiography. The positive rate of biopsy of subcutaneous fat and gingiva was 80.0% and 87.5% respectively. The treatment of systemic amyloidosis was chemotherapy, and that of localized amyloidosis was observation or localized excision. 15 systemic amyloidosis patients died during hospitalization, mainly due to congestive heart failure. CONCLUSION: As treatment and prognosis are different between local and systemic amyloidosis, the distinction between them is very important. Biopsy of abdominal fat and gingival is a useful and safe procedure to identify patients with systemic disease. Doppler echocardiography examination is also helpful for the diagnosis.

Treating primary systemic amyloidosis with stem cell transplantation: outcomes in renal amyloidosis

Abstract: Primary systemic amyloidosis (amyloid light chain; AL) i nvolving major organs can result in debilitation, organ failure and early death1–5. Little progress had been made in reversing this pathology until the mid-1990s when AL patients received dose-intensive intravenous melphalan and hematopoietic stem cell transplantation (SCT)6,7. The effectiveness of SCT in reversing AL in two-thirds of surviving patients has been documented at numerous centers, and iodinated P-component scans by Drs Hawkins, Pepys and colleagues have demonstrated resorption of deposits when the clonal plasma cell disorder is eliminated in patients achieving a complete hematologic response after SCT8–20. This chapter will discuss the concept of stem cell transplantation and describe some of the toxicities associated with its use. In addition, the outcomes in patients with renal amyloidosis treated with dose-intensive melphalan and stem cell transplantation will be described. Finally, the significant contribution that immunoglobulin light chain variable region germline gene use makes to the organ tropism of primary systemic amyloidosis will be described.

Primary Systemic Amyloidosis with Cutis Verticis Gyrata and Purpura

Abstract: 44歳,女性。心不全のため循環器科入院中に,顔面,頚部の紫斑を主訴として皮膚科を受診した。顔面から前胸部にかけて紫斑が,また頭皮に脳回転状の変化がみられ,ともに生検でアミロイドの沈着を認めた。また胃生検でもアミロイドの沈着がみられた。血清よりM蛋白,尿中よりBence-Jones蛋白(ともに抗L-λ抗体陽性)を検出したが,多発性骨髄腫を伴わないことより,原発性全身性アミロイドーシスと診断した。その後,メルファラン·プレドニゾロンによるMP療法を受けたが,皮疹については無効であった。